Living with Charcot-Marie-Tooth disease axonal type 2K
A severe form of Charcot-Marie-Tooth disease that starts in infancy and affects the nerves to the muscles and senses.
Understanding Charcot-Marie-Tooth disease axonal type 2K
It begins in the newborn and infant years. GARD lists nerve fiber loss, clubfeet, absent reflexes, and spine differences among its features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent tendon reflexes
- Clubfeet
- Loss of nerve fibers (axonal neuropathy)
- Clumsy walking in a straight line (tandem gait)
- Differences in the spine
- Delayed motor skills
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GDAP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GDAP1 gene cause this condition. It is inherited in an autosomal recessive way, so a child inherits a changed copy of the gene from each parent.
Also known as: arcmt2k; autosomal recessive axonal charcot-marie-tooth disease disease type 2k; autosomal recessive axonal charcot-marie-tooth disease type 2k; autosomal recessive axonal cmt4c4; autosomal recessive charcot-marie-tooth disease with hoarseness; charcot-marie-tooth disease type 2k
Patient organizations
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease axonal type 2K.
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